The American Journal of Human Genetics · 2001 · 228 citations · 33 references
Life SciencesGeneticsMolecular GeneticsGenetic CounselingHuman GeneticsMedical GeneticsCongenital DisordersGenetic DisordersGenetic SusceptibilityGenetic SyndromesMutation ScreeningX-chromosome InactivationCarrier ScreeningCarrier TestingGenetic Carrier ScreeningMutationMutation Carrier Risk
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Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome
I. Oberlé, F. Rousseau, Dominique Heitz et al. · Science · 1991 · 1.5K citations
Absence of expression of the FMR-1 gene in fragile X syndrome
Maura Pieretti, Ying‐Hui Fu, Stephen T. Warren et al. · Cell · 1991 · 1.5K citations